Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MAEA_chr4_1284891_1345137	1317011	C C	CCCCACAC others(100): Show CCCCACACTCCACACTCACCTGCAGGCCCACCCGGCCCCACACTCTAGAC TCACCCCCAGGCCCACCCCGGCCCCCACACTCCACACTCACCTGCAGGCC CACCCGGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	388	0.0026	107	c.456 others(124): Show c.456+1422_456+1423insCACTCACCTGCAGGCCCACCCGGCCCCA CACTCTAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCACACTCA CCTGCAGGCCCACCCGGTCCCACACTCCA	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317011	C C	CCCCACAC others(100): Show CCCCACACTCCAGACTCACCTGCAGGCCCACCCGGCCCCACACTCTAGAC TCACCCCCAGGCCCACCCTGGCCCCCACACTCCAGACTCACCTGCAGGCC CACCCGGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0300 a0001c0002t0001g0300	1	388	0.0026	107	c.456 others(124): Show c.456+1445_456+1446insCCCCACACTCTAGACTCACCCCCAGGCC CACCCTGGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCGGTCCCAC ACTCCAGACTCACCTGCAGGCCCACCCGG	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317155	C C	CCCCACAC others(100): Show CCCCACACTCCACACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGAC TCACCCCCAGGCCCACCCCGGCCCCCACACTCCACACTCACCTGCAGGCC CACCCGGT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0279 a0001c0003t0007g0279	1	388	0.0026	107	c.456 others(124): Show c.456+1566_456+1567insCACTCACCTGCAGGCCCACCCGGTCCCA CACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCACACTCA CCTGCAGGCCCACCCGGTCCCACACTCCA	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317175	T T	TGCAGGCC others(100): Show TGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCCCAGGCCCACCCCG GCCCCCACACTCCACACTCACCTGCAGGCCCACCCGGTCCCACACTCCAG ACTCACCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	388	0.0026	107	c.456 others(124): Show c.456+1587_456+1588insGGTCCCACACTCCAGACTCACCCCCAGG CCCACCCCGGCCCCCACACTCCACACTCACCTGCAGGCCCACCCGGTCCC ACACTCCAGACTCACCCGCAGGCCCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1317175	T T	TGCAGGCC others(100): Show TGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCCA GCCCCCACACTCCAGACTCACCTGCAGGCCCACCCAGTCCCACACTCCAG ACTCACCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03195.hp1 HG03579.hp1 others(1): Show HG02630.hp1 HG03195.hp1 HG03579.hp1 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0007 a0001c0003t0001 a0001c0003t0007	a0001c0003t0001g0285 a0001c0003t0001g0288 a0001c0003t0007g0282 others(1): Show a0001c0003t0001g0285 a0001c0003t0001g0288 a0001c0003t0007g0282 a0001c0003t0007g0283	4	388	0.0103	107	c.456 others(124): Show c.456+1587_456+1588insGGTCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCAGTCCC ACACTCCAGACTCACCCGCAGGCCCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(100): Show ATATAATTTATATAAATATATAACTATAATTTATATAACTATAATTTATA TAAATATATAACTATAATTTATATAAATATATAACTATAATTTATATAAA TATATGAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0035 a0006c0004t0001g0035	1	152	0.0066	107	c.342 others(126): Show c.3420-8498_3420-8497insAACTATAATTTATATAACTATAATTT ATATAAATATATAACTATAATTTATATAAATATATAACTATAATTTATAT AAATATATGACTATAATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAN2B2_chr4_6570189_6628362	6579243	C C	CCACCACC others(100): Show CCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCAC CACCACCA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	362	0.0028	107	c.391 others(122): Show c.391+746_391+747insACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCAC CATCACCACCACCACCACCACCACCAC	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K13_chr3_185358136_185494094	185453934	G G	GATATATA others(100): Show GATATATATGTGATGATACATATATATGAGATATATATGTGATACATATA TATGAGATATATATGTGATACATATATATGAGATATATATGATACATATA TATGAGAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp1 HG01070.hp2 others(10): Show HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01168.hp1 HG01168.hp2 HG01361.hp2 HG01884.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03831.hp2 HG04115.hp2 NA21309.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0009 a0001c0001 a0001c0002 a0010c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0043 a0001c0002t0017 a0001c0002t0019 a0010c0009t0007	a0001c0001t0002g0083 a0001c0001t0002g0129 a0001c0001t0003g0152 others(10): Show a0001c0001t0002g0083 a0001c0001t0002g0129 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0267 a0001c0001t0005g0264 a0001c0001t0007g0048 a0001c0001t0007g0130 a0001c0001t0007g0158 a0001c0001t0043g0167 a0001c0002t0017g0132 a0001c0002t0019g0111 a0010c0009t0007g0034	13	278	0.0468	107	c.127 others(126): Show c.1278+2548_1278+2549insTGATGATACATATATATGAGATATAT ATGTGATACATATATATGAGATATATATGTGATACATATATATGAGATAT ATATGATACATATATATGAGATATATATATG	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MAP3K13_chr3_185358136_185494094	185453941	A A	ATGTGATG others(100): Show ATGTGATGATACATATATATGAGATATATATGTGATACATATATATGAGA TATATATGTGATACATATATATGAGATATATATGATACATATATATGAGA TATATATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0181 a0001c0001t0053g0181	1	278	0.0036	107	c.127 others(126): Show c.1278+2548_1278+2549insTGATGATACATATATATGAGATATAT ATGTGATACATATATATGAGATATATATGTGATACATATATATGAGATAT ATATGATACATATATATGAGATATATATGTG	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MARCHF1_chr4_163519718_164389019	163894956	T T	TATATATA others(100): Show TATATATATATGCATGTGATGCATATATATATGCATGTGATGCATATATA TATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATGCA TGTGATGC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	1	102	0.0098	107	c.-38 others(126): Show c.-38-40788_-38-40787insGCATCACATGCATATATATATGCATC ACATGCATATATATATATGCATCACATGCATATATATATGCATCACATGC ATATATATATGCATCACATGCATATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163894956	T T	TATATATA others(100): Show TATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATATA TATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATGCA TGTGATGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	102	0.0098	107	c.-38 others(126): Show c.-38-40788_-38-40787insGCATCACATGCATATATATATGCATC ACATGCATATATATATATGCATCACATGCATATATATATGCATCACATGC ATATATATATATGCATCACATGCATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MBP_chr18_76973833_77137783	76975154	C C	CCTTTTCT others(100): Show CCTTTTCTTTTCTTTTCTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0171 a0001c0002t0001g0171	1	396	0.0025	107	c.52 others(118): Show c.5272_*5273insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAGAAAAGAAAAGAAAAG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding		3678		chr18	TogoVar
MGAM_chr7_141990879_142111747	142067986	A A	AAATATAT others(100): Show AAATATATATATATATATATAAATATATATATATATATATATAAATATAT ATATATATATATATATATATAAATATATATATATATATATATATATATAT ATTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0191 a0001c0005t0001g0191	1	316	0.0032	107	c.500 others(124): Show c.5004+561_5004+562insAATATATATATATATATATAAATATATA TATATATATATATAAATATATATATATATATATATATATATAAATATATA TATATATATATATATATATATATTTTTTT	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	42/70			chr7	TogoVar
MINAR1_chr15_79427336_79477304	79438571	G G	GGGTGGAT others(100): Show GGGTGGATAGTGGGTGGGTGTGGGTGGGGTGGGCAGTGAGTGTGTGGGGT GTGGGGTGGATAGTGAGTGTGCGGGGTGTGGGTGGAGTGGGTAGTGAGTG TGCGGGGT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02602.hp2 HG01433.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0165 a0001c0001t0001g0152 a0001c0001t0001g0165	2	390	0.0051	107	c.-51 others(124): Show c.-51+6031_-51+6032insGGTGGATAGTGGGTGGGTGTGGGTGGGG TGGGCAGTGAGTGTGTGGGGTGTGGGGTGGATAGTGAGTGTGCGGGGTGT GGGTGGAGTGGGTAGTGAGTGTGCGGGGT	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3			chr15	TogoVar
MLPH_chr2_237482251_237560322	237544331	T T	TGGGGGGG others(100): Show TGGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGT GGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAATGGGCACGGT AGTGAGTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0115 a0006c0006t0001g0115	1	286	0.0035	107	c.153 others(126): Show c.1539+1678_1539+1679insGACAGTGGTGAGTGGGGGGACAGTGG TGAGTGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAG TGGTGAATGGGCACGGTAGTGAGTGGGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237544736	G G	GGGGGGAC others(100): Show GGGGGGACAGTGGTGAGTGGGGCACAGTGGTGAGTGGAGGGACAGTGGTG AGTGGGGGGACAGTGGTTAGTGGGGGGACAGTGGTGAGTGGAGGGGACAG TGGTGAGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0003 a0006c0006t0003	a0006c0006t0003g0117 a0006c0006t0003g0117	1	286	0.0035	107	c.154 others(126): Show c.1540-1866_1540-1865insGACAGTGGTGAGTGGGGCACAGTGGT GAGTGGAGGGACAGTGGTGAGTGGGGGGACAGTGGTTAGTGGGGGGACAG TGGTGAGTGGAGGGGACAGTGGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MND1_chr4_153339688_153420118	153381681	T T	TAATATAT others(100): Show TAATATATATAATATAATATATATATATTATATATAATATAATATATATA TATAATATATATAATATATATATATTATATTATATATATTATATATATAT TATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	342	0.0029	107	c.277 others(126): Show c.277-12580_277-12579insATATATATAATATAATATATATATAT TATATATAATATAATATATATATATAATATATATAATATATATATATTAT ATTATATATATTATATATATATTATATATAA	MND1	ENSG00000121211.8	transcript	ENST00000240488.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
MRTFA_chr22_40405289_40641719	40498274	T T	TATATATT others(100): Show TATATATTTATATATATATATTTATATATATATATTTATATATATATATA AATATATATATATATTTATATATATATACTTATATATATATATATTTATA TATATATA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18959.hp1 NA19080.hp1 NA18612.hp1 NA18959.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0001 a0001c0001t0002 a0001c0004t0001	a0001c0001t0002g0019 a0001c0001t0002g0048 a0001c0004t0001g0049 a0001c0001t0002g0019 a0001c0001t0002g0048 a0001c0004t0001g0049	3	256	0.0117	107	c.242 others(126): Show c.242-34989_242-34988insTATATATATATAAATATATATATATA TAAGTATATATATATAAATATATATATATATTTATATATATATATAAATA TATATATATAAATATATATATATAAATATAT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40498274	T T	TATATTTA others(100): Show TATATTTATATATATATATTTATATATATATATTTATATATATATATATA AATATATATATATATTTATATATATATACTTATATATATATATATTTATA TATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01123.hp2 HG01952.hp1 others(8): Show HG00558.hp1 HG01123.hp2 HG01952.hp1 NA18964.hp2 NA18970.hp2 NA18979.hp1 NA19003.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0029 others(8): Show a0001c0001t0002g0017 a0001c0001t0002g0026 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0063	11	256	0.0430	107	c.242 others(126): Show c.242-34989_242-34988insTATATATATATAAATATATATATATA TAAGTATATATATATAAATATATATATATATTTATATATATATATATAAA TATATATATATAAATATATATATATAAATAT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40498274	T T	TATATTTA others(100): Show TATATTTATATATATATATTTATATATATATATTTATATATATATATATA AATATATATATATTTATATATATATACTTATATATATATATATTTATATA TATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	256	0.0039	107	c.242 others(126): Show c.242-34989_242-34988insTATATATATATATAAATATATATATA TATAAGTATATATATATAAATATATATATATTTATATATATATATATAAA TATATATATATAAATATATATATATAAATAT	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSLN_chr16_755734_773862	760468	A A	AGGCTCCC others(100): Show AGGCTCCCACCCACGCCCCACACCCACCCAGGGCAGCCATGAAACCTGGG CCCGGGCTCCCACTCACACCCCACCCCCACCCAGGGCAGCCGTGAAACCT GGGCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(318): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(24): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0019 a0020 a0021 a0022 a0025 a0026 a0027 a0028 a0029 a0030	a0000c0039 a0001c0001 a0001c0008 others(39): Show a0000c0039 a0001c0001 a0001c0008 a0001c0022 a0001c0035 a0001c0038 a0001c0041 a0002c0002 a0002c0003 a0002c0015 a0002c0025 a0003c0004 a0004c0006 a0004c0017 a0004c0021 a0005c0005 a0005c0045 a0006c0007 a0006c0010 a0007c0012 a0007c0016 a0008c0009 a0009c0011 a0009c0031 a0010c0013 a0011c0014 a0012c0018 a0014c0024 a0014c0047 a0015c0020 a0016c0028 a0017c0023 a0019c0032 a0020c0033 a0021c0043 a0022c0036 a0025c0042 a0026c0030 a0027c0026 a0028c0044 a0029c0046 a0030c0048	a0000c0039t0008 a0001c0001t0001 a0001c0001t0005 others(48): Show a0000c0039t0008 a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0008t0001 a0001c0022t0001 a0001c0035t0001 a0001c0038t0001 a0001c0041t0001 a0002c0002t0002 a0002c0002t0012 a0002c0003t0001 a0002c0003t0002 a0002c0003t0004 a0002c0015t0003 a0002c0025t0002 a0003c0004t0003 a0004c0006t0001 a0004c0017t0001 a0004c0021t0001 a0005c0005t0001 a0005c0005t0009 a0005c0045t0001 a0006c0007t0001 a0006c0010t0001 a0007c0012t0001 a0007c0016t0001 a0007c0016t0005 a0008c0009t0002 a0009c0011t0001 a0009c0031t0002 a0010c0013t0006 a0010c0013t0007 a0011c0014t0001 a0012c0018t0001 a0014c0024t0002 a0014c0024t0013 a0014c0047t0003 a0015c0020t0002 a0016c0028t0001 a0017c0023t0001 a0019c0032t0001 a0020c0033t0001 a0021c0043t0001 a0022c0036t0001 a0025c0042t0001 a0026c0030t0001 a0027c0026t0001 a0028c0044t0002 a0029c0046t0001 a0030c0048t0001	a0000c0039t0008g0146 a0001c0001t0001g0005 a0001c0001t0001g0010 others(296): Show a0000c0039t0008g0146 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0252 a0001c0001t0001g0292 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0351 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0005g0221 a0001c0001t0010g0140 a0001c0008t0001g0300 a0001c0008t0001g0301 a0001c0008t0001g0302 a0001c0008t0001g0303 a0001c0008t0001g0304 a0001c0008t0001g0305 a0001c0008t0001g0306 a0001c0022t0001g0178 a0001c0022t0001g0270 a0001c0035t0001g0206 a0001c0038t0001g0083 a0001c0041t0001g0152 a0002c0002t0002g0001 a0002c0002t0002g0007 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0049 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0191 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0235 a0002c0002t0002g0289 a0002c0002t0002g0294 a0002c0002t0002g0295 a0002c0002t0002g0299 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0321 a0002c0002t0002g0322 a0002c0002t0002g0323 a0002c0002t0002g0324 a0002c0002t0002g0325 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0331 a0002c0002t0002g0332 a0002c0002t0002g0333 a0002c0002t0002g0334 a0002c0002t0002g0335 a0002c0002t0002g0336 a0002c0002t0002g0337 a0002c0002t0002g0338 a0002c0002t0002g0343 a0002c0002t0002g0344 a0002c0002t0012g0315 a0002c0003t0001g0059 a0002c0003t0001g0159 a0002c0003t0002g0247 a0002c0003t0002g0248 a0002c0003t0002g0249 a0002c0003t0002g0253 a0002c0003t0002g0260 a0002c0003t0002g0268 a0002c0003t0004g0211 a0002c0003t0004g0212 a0002c0003t0004g0213 a0002c0003t0004g0214 a0002c0003t0004g0215 a0002c0003t0004g0216 a0002c0003t0004g0217 a0002c0003t0004g0218 a0002c0003t0004g0219 a0002c0003t0004g0220 a0002c0003t0004g0230 a0002c0003t0004g0231 a0002c0003t0004g0232 a0002c0003t0004g0233 a0002c0003t0004g0234 a0002c0015t0003g0066 a0002c0015t0003g0174 a0002c0015t0003g0255 a0002c0015t0003g0256 a0002c0025t0002g0293 a0003c0004t0003g0019 a0003c0004t0003g0269 a0003c0004t0003g0275 a0003c0004t0003g0276 a0003c0004t0003g0352 a0004c0006t0001g0181 a0004c0006t0001g0185 a0004c0006t0001g0224 a0004c0006t0001g0240 a0004c0006t0001g0262 a0004c0006t0001g0265 a0004c0006t0001g0266 a0004c0006t0001g0267 a0004c0006t0001g0346 a0004c0006t0001g0350 a0004c0017t0001g0142 a0004c0017t0001g0263 a0004c0017t0001g0264 a0004c0021t0001g0298 a0004c0021t0001g0345 a0005c0005t0001g0009 a0005c0005t0001g0022 a0005c0005t0001g0025 a0005c0005t0001g0027 a0005c0005t0001g0031 a0005c0005t0001g0033 a0005c0005t0001g0035 a0005c0005t0001g0037 a0005c0005t0001g0038 a0005c0005t0001g0039 a0005c0005t0001g0041 a0005c0005t0009g0032 a0005c0045t0001g0040 a0006c0007t0001g0008 a0006c0007t0001g0014 a0006c0007t0001g0023 a0006c0007t0001g0026 a0006c0007t0001g0254 a0006c0007t0001g0258 a0006c0010t0001g0013 a0006c0010t0001g0237 a0006c0010t0001g0238 a0006c0010t0001g0239 a0007c0012t0001g0004 a0007c0012t0001g0245 a0007c0012t0001g0246 a0007c0016t0001g0043 a0007c0016t0005g0012 a0007c0016t0005g0229 a0008c0009t0002g0028 a0008c0009t0002g0044 a0008c0009t0002g0045 a0008c0009t0002g0046 a0008c0009t0002g0047 a0008c0009t0002g0048 a0008c0009t0002g0257 a0009c0011t0001g0005 a0009c0011t0001g0101 a0009c0011t0001g0184 a0009c0011t0001g0340 a0009c0031t0002g0353 a0010c0013t0006g0209 a0010c0013t0006g0210 a0010c0013t0007g0207 a0010c0013t0007g0208 a0011c0014t0001g0003 a0011c0014t0001g0145 a0012c0018t0001g0078 a0012c0018t0001g0079 a0012c0018t0001g0186 a0014c0024t0002g0029 a0014c0024t0013g0290 a0014c0047t0003g0030 a0015c0020t0002g0296 a0015c0020t0002g0297 a0016c0028t0001g0187 a0017c0023t0001g0020 a0017c0023t0001g0021 a0019c0032t0001g0177 a0020c0033t0001g0342 a0021c0043t0001g0008 a0022c0036t0001g0183 a0025c0042t0001g0170 a0026c0030t0001g0129 a0027c0026t0001g0169 a0028c0044t0002g0250 a0029c0046t0001g0034 a0030c0048t0001g0155	321	388	0.8273	107	c.-46 others(116): Show c.-465_-464insGGCTCCCACCCACGCCCCACACCCACCCAGGGCAGC CATGAAACCTGGGCCCGGGCTCCCACTCACACCCCACCCCCACCCAGGGC AGCCGTGAAACCTGGGCCCTG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		265		chr16	TogoVar
MSLN_chr16_755734_773862	760501	A A	AAGCCATG others(100): Show AAGCCATGAAACCTGGGCCCGGGCTCCCACTCACACCCCACCCCCACCCA GGGCAGCCGTGAAACCTGGGCCCTGGGCTCCCACCCACGCCCCACACCCA CCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG00733.hp1 others(15): Show HG00280.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01074.hp1 HG01123.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG02257.hp1 HG02738.hp1 HG03017.hp1 HG03130.hp1 HG03239.hp2 HG03834.hp2 HG06807.hp2 NA20805.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0009 a0023	a0001c0001 a0002c0003 a0005c0005 others(2): Show a0001c0001 a0002c0003 a0005c0005 a0009c0011 a0023c0037	a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 others(3): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 a0005c0005t0001 a0009c0011t0001 a0023c0037t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 others(15): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0144 a0001c0001t0001g0175 a0001c0001t0001g0204 a0002c0003t0001g0102 a0002c0003t0002g0074 a0005c0005t0001g0198 a0009c0011t0001g0203 a0023c0037t0001g0123	18	388	0.0464	107	c.-43 others(116): Show c.-432_-431insAGCCATGAAACCTGGGCCCGGGCTCCCACTCACACC CCACCCCCACCCAGGGCAGCCGTGAAACCTGGGCCCTGGGCTCCCACCCA CGCCCCACACCCACCCAGGGC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		232		chr16	TogoVar
MSLN_chr16_755734_773862	760523	G G	GCTCCCAC others(100): Show GCTCCCACTCACACCCCACCCCCACCCAGGGCAGCCGTGAAACCTGGGCC CTGGGCTCCCACCCACGCCCCACACCCACCCAGGGCAGCCATGAAACCTG GGCCCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 NA20905.hp1 HG00639.hp2 NA20905.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0024 a0005c0005t0001g0036 a0005c0005t0001g0024 a0005c0005t0001g0036	2	388	0.0052	107	c.-41 others(116): Show c.-410_-409insCTCCCACTCACACCCCACCCCCACCCAGGGCAGCCG TGAAACCTGGGCCCTGGGCTCCCACCCACGCCCCACACCCACCCAGGGCA GCCATGAAACCTGGGCCCGGA	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		210		chr16	TogoVar
MSLN_chr16_755734_773862	767581	C C	CGCGTGGA others(100): Show CGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGA GGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGT GTGGGGGG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	388	0.0026	107	c.159 others(124): Show c.1596+123_1596+124insAGGGGCGCATGGGGGGGTGTGGAGGGGG GCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGA GGGGGCCGTGTGGGGGGGCGTGGAGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767721	A A	AGGGGCGC others(100): Show AGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCACGTGGAGGAGGGG CGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAG GGGCGCGT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0027 a0005c0005t0001g0027	1	388	0.0026	107	c.159 others(124): Show c.1596+253_1596+254insGGCGCGTGGAGGAGGGGCGCGTGGAGGA GGGGCACGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGA GGAGGGGCGCGTGGAGGAGGGGCGCGTGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	767932	G G	GGGGGGGC others(100): Show GGGGGGGCGTGGAGGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGAG GGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGGGGGGGCGCATGGGGG GGCGTGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp1 HG02965.hp1 HG01891.hp2 HG02630.hp1 HG02965.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0044 a0008c0009t0002g0045 a0008c0009t0002g0046 a0008c0009t0002g0044 a0008c0009t0002g0045 a0008c0009t0002g0046	3	388	0.0077	107	c.159 others(124): Show c.1597-446_1597-445insGGGGGCGTGGAGGGGGGGCGCGTGGAGG AGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGC GTGGGGGGGGCGCATGGGGGGGCGTGGAG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MTHFD1L_chr6_150860702_151106887	150994077	A A	AAAGAAAG others(100): Show AAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAG	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	226	0.0044	107	c.212 others(128): Show c.2126-15740_2126-15739insGAAAGAAAGAAAGAAAGAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	MTHFD1L	ENSG00000120254.16	transcript	ENST00000367321.8	protein_coding	20/27		INFO_REALIGN_3_PRIME	chr6	TogoVar
MUSK_chr9_110663791_110811558	110701652	A A	ATATTTTA others(100): Show ATATTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0011 a0002c0004t0011	a0002c0004t0011g0144 a0002c0004t0011g0144	1	326	0.0031	107	c.628 others(124): Show c.628+4187_628+4188insATTTTATTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110701652	A A	ATTATTTT others(100): Show ATTATTTTTTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	326	0.0031	107	c.628 others(124): Show c.628+4188_628+4189insATTTTTTTTATTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYOM2_chr8_2040046_2150456	2086071	C C	CCCACCGC others(100): Show CCCACCGCTGTCGTGATCTCCGCGTGGCCCCTCACTGTCGTGATCTCTGC GTGGCCCCCCACTGTCATGATCTCTGTGTGGCCCACCGCTGTCGTGATCT CCGCGTGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0112 a0001c0014t0002g0112	1	403	0.0025	107	c.164 others(124): Show c.1644+683_1644+684insACCGCTGTCGTGATCTCCGCGTGGCCCC TCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCATGATCTCTGTGTGG CCCACCGCTGTCGTGATCTCCGCGTGGCC	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NAALADL2_chr3_174854334_175815548	175802652	T T	TTAAGATA others(100): Show TTAAGATATTTTTTTCTGTTTCGATTTGTTGAATAAACTGGGTCATTTGT CTTATAAAGTTTTCCACATCTATATTTTGCTAATGACACATTGTGGTATA ATTTAAGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03130.hp1 HG03225.hp2 HG02895.hp2 HG03130.hp1 HG03225.hp2	a0003 a0005 a0007 a0003 a0005 a0007	a0003c0003 a0005c0011 a0007c0014 a0003c0003 a0005c0011 a0007c0014	a0003c0003t0004 a0005c0011t0004 a0007c0014t0004 a0003c0003t0004 a0005c0011t0004 a0007c0014t0004	a0003c0003t0004g0046 a0005c0011t0004g0029 a0007c0014t0004g0040 a0003c0003t0004g0046 a0005c0011t0004g0029 a0007c0014t0004g0040	3	64	0.0469	107	c.219 others(124): Show c.2190-351_2190-350insAGATATTTTTTTCTGTTTCGATTTGTTG AATAAACTGGGTCATTTGTCTTATAAAGTTTTCCACATCTATATTTTGCT AATGACACATTGTGGTATAATTTAAGATA	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
NAB1_chr2_190644083_190697766	190690011	T T	TCTATACA others(100): Show TCTATACATATATGTATAGTATACATATATGTATAGTATACATATATGTA TACTATACGTATAGTATACATATATGTATACTATACGTATAGTATACATA TATGTATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02698.hp1 NA18939.hp2 others(4): Show HG02135.hp1 HG02698.hp1 NA18939.hp2 NA18968.hp1 NA18981.hp2 NA19074.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0020 a0001c0001t0008 a0001c0001t0020	a0001c0001t0008g0096 a0001c0001t0008g0097 a0001c0001t0008g0099 others(4): Show a0001c0001t0008g0096 a0001c0001t0008g0097 a0001c0001t0008g0099 a0001c0001t0008g0129 a0001c0001t0008g0130 a0001c0001t0008g0243 a0001c0001t0020g0133	7	374	0.0187	107	c.137 others(124): Show c.1376-217_1376-216insGTATACATATATGTATAGTATACATATA TGTATACTATACGTATAGTATACATATATGTATACTATACGTATAGTATA CATATATGTATACTATACATATATGTATA	NAB1	ENSG00000138386.17	transcript	ENST00000337386.10	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
NALCN_chr13_101048776_101421508	101334388	A A	ATCCAGGA others(100): Show ATCCAGGAAGAATGGGATGAACACATACATTCAAGAAGAGATGGAGAGAG GCAATCCAGGAAGAATGGGATGAACACATACATTCAAGAAGAGAATGGAG AGAGGCAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0082 a0001c0005t0002g0082	1	176	0.0057	107	c.799 others(126): Show c.799+10877_799+10878insATGCCTCTCTCCATTCTCTTCTTGAA TGTATGTGTTCATCCCATTCTTCCTGGATTGCCTCTCTCCATCTCTTCTT GAATGTATGTGTTCATCCCATTCTTCCTGGA	NALCN	ENSG00000102452.18	transcript	ENST00000251127.11	protein_coding	7/43			chr13	TogoVar
NCOR1_chr17_16024157_16220534	16095665	G G	GGGGGGGT others(100): Show GGGGGGGTCAGCCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGG GAGGTGGGGGGGGGGTCAGCCCCCCTGCCCAGCCAGCCGCCCCGTCCGGG AGGGAGGT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	282	0.0036	107	c.282 others(126): Show c.2820+2701_2820+2702insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGTGGC TGGCGGGGGGGGGGGGGGGGGCTGACCCCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095666	G G	GGGGGGTC others(100): Show GGGGGGTCAGCCCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGG GAGGTGGGGGGGGGGTCAGCCCCCCTGCCCAGCCAGCCGCCCCGTCCGGG AGGGAGGT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	282	0.0036	107	c.282 others(126): Show c.2820+2700_2820+2701insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGTGGC TGGCGGGGGGGGGGGGGGGGGGCTGACCCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095666	G G	GGGGGGTC others(100): Show GGGGGGTCAGCCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGG AGGTGGGGGGGGGGGTCAGCCCCCCTGCCCAGCCAGCCGCCCCGTCCGGG AGGGAGGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03491.hp2 HG02109.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0253 a0001c0001t0001g0254	2	282	0.0071	107	c.282 others(126): Show c.2820+2700_2820+2701insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCAGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGATGGGGTGG CTGGCGGGGGGGGGGGGGGGGGCTGACCCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(100): Show GGGGGTCAGCCCCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGG GAGGTGGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGG AGGGAGGT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01346.hp1 HG01361.hp1 others(6): Show HG01169.hp2 HG01346.hp1 HG01361.hp1 HG01952.hp1 NA18961.hp1 NA18977.hp1 NA19003.hp2 NA19060.hp2 NA19083.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0016 a0001c0001 a0003c0016	a0001c0001t0002 a0001c0001t0006 a0003c0016t0002 a0001c0001t0002 a0001c0001t0006 a0003c0016t0002	a0001c0001t0002g0188 a0001c0001t0002g0209 a0001c0001t0002g0225 others(6): Show a0001c0001t0002g0188 a0001c0001t0002g0209 a0001c0001t0002g0225 a0001c0001t0002g0235 a0001c0001t0002g0238 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0006g0213 a0003c0016t0002g0219	9	282	0.0319	107	c.282 others(126): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGATGGGGTGGC TGGCGGGGGGGGGGGGGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NCOR1_chr17_16024157_16220534	16095667	G G	GGGGGTCA others(100): Show GGGGGTCAGCCCCCCCCCCCCCCCCCCGCCAGCCACCCCATCCGGGAGGG AGGTGGGGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCCGTCCGGG AGGGAGGT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0191 a0001c0001t0002g0191	1	282	0.0036	107	c.282 others(126): Show c.2820+2699_2820+2700insACCTCCCTCCCGGACGGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCCCCACCTCCCTCCCGGATGGGGTGG CTGGCGGGGGGGGGGGGGGGGGGCTGACCCC	NCOR1	ENSG00000141027.23	transcript	ENST00000268712.8	protein_coding	21/45			chr17	TogoVar
NDST4_chr4_114822763_115118620	115022464	C C	CATATATA others(100): Show CATATATATATGTGTTCCATATATATATGTGTTCCATATATGTGTTCCAT ATATATGTGTTCCATATATATGTGTTCCATATATATGTGTTCCATATATA TGTTCCAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0011 a0001c0003t0001g0012	2	190	0.0105	107	c.979 others(126): Show c.979-45191_979-45190insATGGAACATATATATGGAACACATAT ATATGGAACACATATATATGGAACACATATATATGGAACACATATATGGA ACACATATATATATGGAACACATATATATAT	NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	2/13			chr4	TogoVar
NF1_chr17_31089977_31382675	31335274	T T	TTATATAT others(100): Show TTATATATATATATATATATATATGTATATAATTATATAGGATTATATGT AGGATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATA CATATATA	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA20905.hp2 HG03491.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0149 a0001c0001t0001g0150	2	252	0.0079	107	c.600 others(124): Show c.6006+265_6006+266insTGTATATAATTATATAGGATTATATGTA GGATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATAC ATATATATATATATATATATATATATATA	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	40/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NF1_chr17_31089977_31382675	31335274	T T	TTATATAT others(100): Show TTATATATATATATATATATATGTATATAATTATATAGGATTATATGTAG GATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATACA TATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02818.hp2 HG03579.hp1 others(12): Show HG00597.hp2 HG02818.hp2 HG03579.hp1 HG03834.hp1 NA18612.hp1 NA18942.hp1 NA18950.hp2 NA18955.hp2 NA18965.hp2 NA18969.hp1 NA18973.hp1 NA18974.hp1 NA18999.hp1 NA19012.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0010 a0001c0001t0019 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0019 a0001c0009t0001	a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0044 others(12): Show a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0151 a0001c0001t0010g0059 a0001c0001t0019g0037 a0001c0009t0001g0068 a0001c0009t0001g0113	15	252	0.0595	107	c.600 others(124): Show c.6006+264_6006+265insGTATATAATTATATAGGATTATATGTAG GATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATACA TATATATATATATATATATATATATATAT	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	40/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NF1_chr17_31089977_31382675	31335290	A A	ATATATGT others(100): Show ATATATGTATATAATTATATAGGATTATATGTAGGATTATATTTATAATA TAATCCTACATATAATCCTATATAATTATATACATATATATATATATATA TATATATG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	252	0.0040	107	c.600 others(124): Show c.6006+264_6006+265insGTATATAATTATATAGGATTATATGTAG GATTATATTTATAATATAATCCTACATATAATCCTATATAATTATATACA TATATATATATATATATATATATGTATAT	NF1	ENSG00000196712.20	transcript	ENST00000358273.9	protein_coding	40/57		INFO_REALIGN_3_PRIME	chr17	TogoVar
NFATC1_chr18_79390930_79534323	79400832	A A	ACCTCCCC others(100): Show ACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTCCCCCGACCTCCC CCTTCCCCCCCGACCTCCCCCCCGCGCCCCGACCTCCCCCCGCCCCCCTC CCCCGGCC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0071 a0001c0001t0007g0071	1	322	0.0031	107	c.127 others(124): Show c.127+4483_127+4484insTCCCCCCCGCGCCCCGACCTCCTCCCTG TTCCCTCCCCCGACCTCCCCCTTCCCCCCCGACCTCCCCCCCGCGCCCCG ACCTCCCCCCGCCCCCCTCCCCCGGCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFILZ_chr19_8625633_8686151	8656355	C C	CCGCAGCG others(100): Show CCGCAGCGCACCTCCTCCCTGAAGCCCACCTCTTCCCTGAAGCCCACCTT CTCCCTGCAGCCCACCTTCTCTCTGAAGCCCACCTTCTCCCTGCAGCCCA CCTTCTCT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0214 a0001c0001t0005g0214	1	366	0.0027	107	c.-16 others(128): Show c.-163-18195_-163-18194insGCAGCGCACCTCCTCCCTGAAGCC CACCTCTTCCCTGAAGCCCACCTTCTCCCTGCAGCCCACCTTCTCTCTGA AGCCCACCTTCTCCCTGCAGCCCACCTTCTCTC	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993497	T T	TCCCTCCC others(100): Show TCCCTCCCCCTCTCCCCCCTCCCTCCCCCTCCCCTCCCCCTCTCCCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCC CTCCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0000 a0000	a0000c0061 a0000c0061	a0000c0061t0030 a0000c0061t0030	a0000c0061t0030g0328 a0000c0061t0030g0328	1	350	0.0029	107	c.55 others(118): Show c.5584_*5585insCCCTCCCCCTCTCCCCCCTCCCTCCCCCTCCCCT CCCCCTCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCTC	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4869		chr19	TogoVar
NOC4L_chr12_132139457_132157468	132155697	C C	CACACTAC others(100): Show CACACTACACACACTACACCACTACACACACCACTACACACACTACACGC ACACAGTACACGCACCACTACACACACTACACGCACACAGTACACACACC ACTACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	294	0.0034	107	c.32 others(118): Show c.3296_*3297insACACTACACACACTACACCACTACACACACCACT ACACACACTACACGCACACAGTACACGCACCACTACACACACTACACGCA CACAGTACACACACCACTACACA	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding		3230		chr12	TogoVar
NOTCH1_chr9_136489433_136551048	136535597	A A	AGGGGCAA others(100): Show AGGGGCAATGGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCC AGGGGCAATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGA TCCCTCCC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02717.hp1 HG03195.hp2 others(2): Show HG02451.hp1 HG02717.hp1 HG03195.hp2 HG03516.hp2 NA18906.hp1	a0001 a0015 a0023 a0001 a0015 a0023	a0001c0001 a0015c0034 a0023c0047 a0001c0001 a0015c0034 a0023c0047	a0001c0001t0002 a0001c0001t0013 a0015c0034t0014 others(1): Show a0001c0001t0002 a0001c0001t0013 a0015c0034t0014 a0023c0047t0004	a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0013g0054 others(2): Show a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0013g0054 a0015c0034t0014g0087 a0023c0047t0004g0086	5	324	0.0154	107	c.140 others(124): Show c.140+8426_140+8427insGGGAGGGATCCTGAGTGCTCCCCCCTCC ACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATCCTGAGTGCTC CCCCCGACCCACCCTGCACCCATTGCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535607	G G	GGTGCAGG others(100): Show GGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGG GGCAATGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0004 a0001c0008t0004	a0001c0008t0004g0031 a0001c0008t0004g0031	1	324	0.0031	107	c.140 others(124): Show c.140+8416_140+8417insTCATTGCCCCGGGAGGGATCCTGAGTGC TCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCGACCCACCCTGCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535817	G G	GGTGCAGG others(100): Show GGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGG GGCAATGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0294 a0001c0009t0001g0294	1	324	0.0031	107	c.140 others(124): Show c.140+8206_140+8207insTCATTGCCCCGGGAGGGATCCTGAGTGC TCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCGACCCACCCTGCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535933	G G	GGTGGGTG others(100): Show GGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCAGGGGCAATGGGTGCA GGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0212 a0001c0001t0007g0212	1	324	0.0031	107	c.140 others(124): Show c.140+8090_140+8091insTCCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGAG GGATCCTGAGTGCTCCCCCCTCCACCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar

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Search Results (Total: 10000 hits)